Cystic fibrosis, Duchenne muscular dystrophy and preimplantation genetic diagnosis

Hum Reprod Update. 1996 Nov-Dec;2(6):531-9. doi: 10.1093/humupd/2.6.531.

Abstract

Cystic fibrosis (CF) is the most common genetic disease among Caucasians. Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders. The CF and DMD genes were discovered a few years ago, which provided the possibility for prenatal diagnosis and preimplantation diagnosis of CF and DMD by using specific DNA analysis. In this article, CF, DMD, the process of the identification of the genes of CF and DMD and preimplantation genetic diagnosis are briefly described.

Publication types

  • Review

MeSH terms

  • Blastocyst*
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Female
  • Genetic Carrier Screening
  • Humans
  • Male
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / epidemiology
  • Muscular Dystrophies / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • Vas Deferens / abnormalities
  • White People / genetics
  • X Chromosome

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator